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rs121909353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909353(A;G)
Make rs121909353(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position96144660
GeneGDF6
is asnp
is mentioned by
dbSNPrs121909353
ebirs121909353
HLIrs121909353
Exacrs121909353
Varsomers121909353
Maprs121909353
PheGenIrs121909353
hapmaprs121909353
1000 genomesrs121909353
hgdprs121909353
ensemblrs121909353
gopubmedrs121909353
geneviewrs121909353
scholarrs121909353
googlers121909353
pharmgkbrs121909353
gwascentralrs121909353
openSNPrs121909353
23andMers121909353
23andMe allrs121909353
SNP Nexus

SNPshotrs121909353
SNPdbers121909353
MSV3drs121909353
GWAS Ctlgrs121909353
GMAF0.0009183
Max Magnitude0
OMIM601147
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909353(G;G)
Alt rs121909353(G;G)
Reference rs121909353(A;A)
Significance Pathogenic
Disease Klippel-Feil syndrome 1
Variation info
Gene GDF6
CLNDBN Klippel-Feil syndrome 1, autosomal dominant
Reversed 1
HGVS NC_000008.10:g.97156888T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008879.2,